Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.
Forensic Sci Int
; 210(1-3): e1-3, 2011 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-21531094
ABSTRACT
Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (VLCADD) (OMIM #201475) is an autosomal recessive disorder of fatty acid oxidation. Major phenotypic expressions are hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, myopathy, rhabdomyolysis, elevated creatinine kinase, and lipid infiltration of liver and muscle. At the same time, it is a rare cause of Sudden Infant Death Syndrome (SIDS) or unexplained death in the neonatal period [1-4]. We report a patient with VLCADD whose parents were investigated for infanticide because her three previous siblings had suddenly died after normal deliveries.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Mitocondriais
/
Erros Inatos do Metabolismo
/
Doenças Musculares
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Forensic Sci Int
Ano de publicação:
2011
Tipo de documento:
Article